Clinical Investigation Of 144 Children With Severe β-Thalassemia

Objective:By analyzing the data of 144 patients with β-thalassemia major(β-TM).The purpose of this study was to investigate the clinical characteristics,gene mutation types,iron overload and endocrine status of thalassemia patients in Hainan,and to strengthen the understanding of thalassemia.Provide a reference for the clinical prevention and treatment of β-TM.Methods:A retrospective analysis of 144 cases of children with β-TM from January 2015 to December 2018 in the Department of Pediatrics and Hematology,Hainan Provincial People’s Hospital.Summarize important clinical manifestations,laboratory tests,imaging examinations,and treatment.According to genotype,blood transfusion status,iron overload,age and other analysis composition ratio,according to the degree of iron overload is divided into three groups,and then statistical analysis of blood transfusion,age,liver function.Results:1.Among the 144 children,85 were male and 59 were female.The age range is from 1 month to 18 years old,with a median age of 5 years,including 103 cases of Han(70.83%)and 41 of Li(41.17%).Hepatomegaly was found in 90 cases(62.5%)and splenomegaly in 85 cases(59.03%).2.The top 5 mutation sites in the 102 cases of β-TM patients were CD41-42,TATAbox-28,CD71-72,CDl7 and IVS.2-654,among which CD41-42 mutations were the most common.CD41-42/CD41-42 homozygous mutant complex is the most common complex mutation in resting alpha thalassemia.3.Most children started transfusion before the age of 2 years.The hemoglobin range before transfusion was 15-110g/L.Most patients had hemoglobin before transfusion at 60-90g/L,and before hetransfusion,hemoglobin was greater than 85g/L.4.Of the 144 patients,80(55.56%)had low body weight,of which 17(11.81%)had a body weight below 3 standard deviations;the mean SF was 3701.17 ± 3807.6 ng/m L(range 9.6-27756.4ng/m L),111(77.08%)patients had iron overload,and severe iron overload accounted for 56.94%.5.Six patients underwent cardiac T2* examination,including 2 cases of mild and severe iron overload.Eight patients underwent liver T2* examination,1 case of severe,4 cases of moderate,and 3 cases of mild liver iron overload.32 patients underwent cardiac ultrasonography,1 had severe pulmonary hypertension,1 had moderate pulmonary hypertension,5 had enlarged heart(4 patients had heart failure),and 10 patients underwent abdominal CT examination,including 9 There is hepatic pigmentation.6.Analysis of the relationship between blood transfusion volume,age and ferritin,the results show that the ferritin is higher with the increase of blood transfusion and age.Light,moderate iron overload and severe iron overload were divided into three groups.The relationship between albumin,alanine aminotransferase,aspartate aminotransferase and ferritin was analyzed.The results showed that the higher the ferritin level,the more prone to liver dysfunction,albumin and ferritin.There is no significant correlation between them.7.Endocrine function: Among 31 patients with thyroid and adrenal function,6 patients found subclinical hypothyroidism,3 patients(9.7%)had adrenal insufficiency;69 patients with blood glucose measured,Five patients had abnormal glucose tolerance,3 patients had diabetes;18 patients(12 males and 6 females)aged over 10 years,with an average age of 13.2 years,and 3 female patients older than 15 years,and 2 patients Primary amenorrhea,3 cases of puberty retardation.There were 5 male patients older than 14 years old,1 had puberty development,and the remaining 4 had puberty retardation.8.Of the 144 children,3 died.40.97%(59 cases)standardized blood transfusion,of which 87.39%(97 cases)did not regulate chelationtherapy;14 cases standardized blood transfusion and chelationtherapy.Seven patients(4.86%)underwent splenectomy and one patient underwent splenic embolization.Allogeneic hematopoietic stem cell transplantation in 10 patients with β-thalassaemia major has been completed,9 of which were cured,1 was poorly implanted,and the cure rate was 90%.Conclusion:1.The most common genetic mutation in 102 patients with β-TM was CD41-42/41-42,accounting for 61.77%.2.In 81.25% of 144 patients with β-TM,the mean Hb before transfusion was less than 90g/L.3.Most people older than 2 years have varying degrees of iron overload and do not regulate chelation treatment.4.Liver function,heart and other endocrine complications increase with iron overload and age.5.10 patients with β-TM underwent allogeneic hematopoietic stem cell transplantation,of which 9 were cured and the cure rate was 90%.